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Open AccessScalable, high quality, whole genome sequencing from archived, newborn, dried blood spots
Universal newborn screening (NBS) is a highly successful public health intervention. Archived dried bloodspots (DBS) collected for NBS represent a rich resource for population genomic studies. To fully harness...
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Open AccessPublisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
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Open AccessAuthor Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
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Article
Open AccessRapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
Congenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are highest in infants with underlying genetic conditions...
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Article
Open AccessPartially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses
To investigate the diagnostic and clinical utility of a partially automated reanalysis pipeline, forty-eight cases of seriously ill children with suspected genetic disease who did not receive a diagnosis upon ...
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Article
Open AccessRapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-genome sequencing (rWGS) can diagnose genetic disorders in time to change acute medical or surgical management (clinical...
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Article
Open AccessThe NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic disease diagnosis, results...
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Article
Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease
Eric Boerwinkle and colleagues carried out exome sequencing on 8,554 individuals and tested loss-of-function variants for association with 20 phenotypes related to common chronic diseases. They identified seve...